List of variants in gene LCA5 studied for Leber congenital amaurosis

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 63

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HGVS	dbSNP
NM_001122769.3(LCA5):c.*1044A>C	rs1057174
NM_001122769.3(LCA5):c.*1113G>A	rs886061787
NM_001122769.3(LCA5):c.*1137G>T	rs528853254
NM_001122769.3(LCA5):c.*1300G>A	rs16890805
NM_001122769.3(LCA5):c.*1316C>T	rs552095479
NM_001122769.3(LCA5):c.*1528G>A	rs41269343
NM_001122769.3(LCA5):c.*1543T>C	rs886061786
NM_001122769.3(LCA5):c.*1559T>C	rs886061785
NM_001122769.3(LCA5):c.*1573A>G	rs140103894
NM_001122769.3(LCA5):c.*1577T>G	rs184100878
NM_001122769.3(LCA5):c.*1680C>A	rs886061784
NM_001122769.3(LCA5):c.*1752G>A	rs1394281
NM_001122769.3(LCA5):c.*223A>G	rs2292109
NM_001122769.3(LCA5):c.*22dup	rs767286706
NM_001122769.3(LCA5):c.*35del	rs747368961
NM_001122769.3(LCA5):c.*473T>C	rs528150967
NM_001122769.3(LCA5):c.*634A>C	rs577878179
NM_001122769.3(LCA5):c.*640T>C	rs45499200
NM_001122769.3(LCA5):c.*815A>C	rs886061788
NM_001122769.3(LCA5):c.*842A>G	rs746828530
NM_001122769.3(LCA5):c.*874A>G	rs149782333
NM_001122769.3(LCA5):c.*875A>G	rs180766217
NM_001122769.3(LCA5):c.*903A>G	rs150693125
NM_001122769.3(LCA5):c.-192+62T>G	rs9343917
NM_001122769.3(LCA5):c.-200G>A	rs886061792
NM_001122769.3(LCA5):c.-251G>A	rs886061793
NM_001122769.3(LCA5):c.-264A>C	rs558234494
NM_001122769.3(LCA5):c.-304A>T	rs886061794
NM_001122769.3(LCA5):c.-348C>T	rs74442236
NM_001122769.3(LCA5):c.-398G>C	rs370115829
NM_001122769.3(LCA5):c.-39T>C	rs886061791
NM_001122769.3(LCA5):c.-414C>T	rs538864087
NM_001122769.3(LCA5):c.-424C>G	rs886061795
NM_001122769.3(LCA5):c.-429G>A	rs541304321
NM_001122769.3(LCA5):c.-62A>G	rs2803195
NM_001122769.3(LCA5):c.1049C>T (p.Thr350Ile)	rs375310752
NM_001122769.3(LCA5):c.1080A>G (p.Glu360=)	rs779447463
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)	rs200988021
NM_001122769.3(LCA5):c.1099-12A>G	rs192066914
NM_001122769.3(LCA5):c.1138G>A (p.Gly380Arg)	rs201814494
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
NM_001122769.3(LCA5):c.1181C>G (p.Thr394Arg)	rs369178808
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile)	rs141821682
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)	rs141642284
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)	rs199557499
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu)	rs570251479
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	rs766143193
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)	rs183011135
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)	rs771460783
NM_001122769.3(LCA5):c.191-3T>A	rs886061790
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)	rs1875845
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met)	rs371733166
NM_001122769.3(LCA5):c.2028C>T (p.Asp676=)	rs768387283
NM_001122769.3(LCA5):c.211A>G (p.Lys71Glu)	rs886061789
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
NM_001122769.3(LCA5):c.281G>A (p.Arg94Gln)	rs34531407
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)	rs200395970
NM_001122769.3(LCA5):c.586C>T (p.Leu196=)	rs114426854
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)	rs2655655
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala)	rs34068461
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	rs866395428
NM_001122769.3(LCA5):c.859-12G>C	rs115317386

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